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To characterize the spectrum of BRCA1 and BRCA2 pathogenic germline variants in women from south-west Poland and west Ukraine affected with breast or ovarian cancer. Testing in women at high risk of breast and ovarian cancer in these regions is currently mainly limited to founder mutations.
Unrelated women affected with breast and/or ovarian cancer from Poland (n = 337) and Ukraine (n = 123) were screened by targeted sequencing. Excluded from targeted sequencing were 34 Polish women who had previously been identified as carrying a founder mutation in BRCA1. No prior testing had been conducted among the Ukrainian women. Thus, this study screened BRCA1 and BRCA2 in the germline DNA of 426 women in total.
We identified 31 and 18 women as carriers of pathogenic/likely pathogenic (P/LP) genetic variants in BRCA1 and BRCA2, respectively. We observed five BRCA1 and eight BRCA2 P/LP variants (13/337, 3.9%) in the Polish women. Combined with the 34/337 (10.1%) founder variants identified prior to this study, the overall P/LP variant frequency in the Polish women was thus 14% (47/337). Among the Ukrainian women, 16/123 (13%) women were identified as carrying a founder mutation and 20/123 (16.3%) were found to carry non-founder P/LP variants (10 in BRCA1 and 10 in BRCA2).
These results indicate that genetic testing in women at high risk of breast and ovarian cancer in Poland and Ukraine should not be limited to founder mutations. Extended testing will enhance risk stratification and management for these women and their families.
To compare sensorimotor learning in stable schizophrenia patients, healthy age- and sex-matched controls and elderly controls in two variations of the classic Rotary Pursuit.
In Circle Pursuit (true motor learning), a target circle, rotating along a predictable circular path on the computer screen, must be followed by manipulating the pen on the writing tablet. The task consists of two trials of six rotations each, with target speed gradually increasing. In the eight-trial Figure Pursuit (motor and sequence learning), subjects learn to draw a complex figure by following a target circle that moves at a fixed speed along an invisible trajectory around several goals. Tasks were administered thrice (interval 2-7days) to 32 stable schizophrenia patients (S), 16 healthy age- and sex-matched controls (Y) and 16 elderly controls (>65y; E) and recorded with a digitizing tablet and pressuresensitive pen (200Hz frequency; 0.2mm spatial accuracy). Learning speed was assessed in a repeated-measures ANOVA of outcome variable accuracy (% of time cursor is within target).
All groups exhibited learning effects and significant group differences in accuracy existed (E<S<Y, p<0.01) in both tasks. However, within-subject analyses revealed a significant effect of group*trial number (p<0.01) and group*session (p0.02) only in Figure Pursuit, indicating a significant difference in learning between groups in this task.
In our Pursuit continuous sensorimotor task, group differences exist between schizophrenia patients and elderly and young healthy controls. When a sequence learning component is added (Figure Pursuit), there is also significant difference in the amount of learning.
The death rate due to suicide in elderly people is particularly high. As part of suicide selective prevention measures for at-risk populations, the WHO recommends training “gatekeepers”.
In order to assess the impact of gatekeeper training for members of staff, we carried out a controlled quasi-experimental study over the course of one year, comparing 12 nursing homes where at least 30% of the staff had undergone gatekeeper training with 12 nursing homes without trained staff. We collected data about the residents considered to be suicidal, their management further to being identified, as well as measures taken at nursing home level to prevent suicide.
The two nursing home groups did not present significantly different characteristics. In the nursing homes with trained staff, the staff were deemed to be better prepared to approach suicidal individuals. The detection of suicidal residents relied more on the whole staff and less on the psychologist alone when compared to nursing homes without trained staff. A significantly larger number of measures were taken to manage suicidal residents in the trained nursing homes. Suicidal residents were more frequently referred to the psychologist. Trained nursing homes put in place significantly more suicide prevention measures at an institutional level.
Having trained gatekeepers has an impact not only for the trained individuals but also for the whole institution where they work, both in terms of managing suicidal residents and routine suicide prevention measures.
Livestock farming is criticized for negatively impacting the environment, concerns about animal welfare and the impact of excessive meat consumption on human health. However, livestock farming provides other underappreciated and poorly communicated benefits to society in terms of employment, product quality, cultural landscapes and carbon storage by grasslands. Few attempts have been made so far to simultaneously consider the services and impacts provided by livestock production. Here, we propose an integrated graphical tool, called the ‘barn’ to explicitly summarize the synergies and trade-offs between services and impacts provided by livestock farming. It illustrates livestock farming interacting with its physical, economic and social environment along five interfaces: (i) Markets, (ii) Work and employment, (iii) Inputs, (iv) Environment and climate, (v) Social and cultural factors. This graphical tool was then applied by comparing two contrasting livestock production areas (high livestock density v. grassland-based), and the dominant v. a niche system within a crop-livestock area. We showed the barn could be used for cross-comparisons of services and impacts across livestock production areas, and for multi-level analysis of services and impacts of livestock farming within a given area. The barn graphically summarizes the ecological and socio-economic aspects of livestock farming by explicitly representing multiple services and impacts of different systems in a simple yet informative way. Information for the five interfaces relies on available quantitative assessments from the literature or data sets, and on expert-knowledge for more qualitative factors, such as social and cultural ones. The ‘barn’ can also inform local stakeholders or policy-makers about potential opportunities and threats to the future of livestock farming in specific production areas. It has already been used as a pedagogical tool for teaching the diversity of services and impacts of livestock systems across Europe and is currently developed as a serious game for encouraging knowledge exchange and sharing different viewpoints between stakeholders.
Livestock is a major driver in most rural landscapes and economics, but it also polarises debate over its environmental impacts, animal welfare and human health. Conversely, the various services that livestock farming systems provide to society are often overlooked and have rarely been quantified. The aim of analysing bundles of services is to chart the coexistence and interactions between the various services and impacts provided by livestock farming, and to identify sets of ecosystem services (ES) that appear together repeatedly across sites and through time. We review three types of approaches that analyse associations among impacts and services from local to global scales: (i) detecting ES associations at system or landscape scale, (ii) identifying and mapping bundles of ES and impacts and (iii) exploring potential drivers using prospective scenarios. At a local scale, farming practices interact with landscape heterogeneity in a multi-scale process to shape grassland biodiversity and ES. Production and various ES provided by grasslands to farmers, such as soil fertility, biological regulations and erosion control, benefit to some extent from the functional diversity of grassland species, and length of pasture phase in the crop rotation. Mapping ES from the landscape up to the EU-wide scale reveals a frequent trade-off between livestock production on one side and regulating and cultural services on the other. Maps allow the identification of target areas with higher ecological value or greater sensitivity to risks. Using two key factors (livestock density and the proportion of permanent grassland within utilised agricultural area), we identified six types of European livestock production areas characterised by contrasted bundles of services and impacts. Livestock management also appeared to be a key driver of bundles of services in prospective scenarios. These scenarios simulate a breakaway from current production, legislation (e.g. the use of food waste to fatten pigs) and consumption trends (e.g. halving animal protein consumption across Europe). Overall, strategies that combine a reduction of inputs, of the use of crops from arable land to feed livestock, of food waste and of meat consumption deliver a more sustainable food future. Livestock as part of this sustainable future requires further enhancement, quantification and communication of the services provided by livestock farming to society, which calls for the following: (i) a better targeting of public support, (ii) more precise quantification of bundles of services and (iii) better information to consumers and assessment of their willingness to pay for these services.
Livestock farming systems provide multiple benefits to humans: protein-rich diets that contribute to food security, employment and rural economies, capital stock and draught power in many developing countries and cultural landscape all around the world. Despite these positive contributions to society, livestock is also the centre of many controversies as regards to its environmental impacts, animal welfare and health outcomes related to excessive meat consumption. Here, we review the potentials of sustainable intensification (SI) and agroecology (AE) in the design of sustainable ruminant farming systems. We analyse the two frameworks in a historical perspective and show that they are underpinned by different values and worldviews about food consumption patterns, the role of technology and our relationship with nature. Proponents of SI see the increase in animal protein demand as inevitable and therefore aim at increasing production from existing farmland to limit further encroachment into remaining natural ecosystems. Sustainable intensification can thus be seen as an efficiency-oriented framework that benefits from all forms of technological development. Proponents of AE appear more open to dietary shifts towards less animal protein consumption to rebalance the whole food system. Agroecology promotes system redesign, benefits from functional diversity and aims at providing regulating and cultural services. We analyse the main criticisms of the two frameworks: Is SI sustainable? How much can AE contribute to feeding the world? Indeed, in SI, social justice has long lacked attention notably with respect to resource allocation within and between generations. It is only recently that some of its proponents have indicated that there is room to include more diversified systems and food-system transformation perspectives and to build socially fair governance systems. As no space is available for agricultural land expansion in many areas, agroecological approaches that emphasise the importance of local production should also focus more on yield increases from agricultural land. Our view is that new technologies and strict certifications offer opportunities for scaling-up agroecological systems. We stress that the key issue for making digital science part of the agroecological transition is that it remains at a low cost and is thus accessible to smallholder farmers. We conclude that SI and AE could converge for a better future by adopting transformative approaches in the search for ecologically benign, socially fair and economically viable ruminant farming systems.
The increased accessibility of soft-tissue data through diffusible iodine-based contrast-enhanced computed tomography (diceCT) enables comparative biologists to increase the taxonomic breadth of their studies with museum specimens. However, it is still unclear how soft-tissue measurements from preserved specimens reflect values from freshly collected specimens and whether diceCT preparation may affect these measurements. Here, we document and evaluate the accuracy of diceCT in museum specimens based on the soft-tissue reconstructions of brains and eyes of five bats. Based on proxies, both brains and eyes were roughly 60% of the estimated original sizes when first imaged. However, these structures did not further shrink significantly over a 4-week staining interval, and 1 week in 2.5% iodine-based solution yielded sufficient contrast for differentiating among soft-tissues. Compared to six “fresh” bat specimens imaged shortly after field collection (not fixed in ethanol), the museum specimens had significantly lower relative volumes of the eyes and brains. Variation in field preparation techniques and conditions, and long-term storage in ethanol may be the primary causes of shrinkage in museum specimens rather than diceCT staining methodology. Identifying reliable tissue-specific correction factors to adjust for the shrinkage now documented in museum specimens requires future work with larger samples.
Secondary carbonate deposits (similar to speleothems) in urban undergrounds, have been recently highlighted as powerful archives for reconstruction of the historical anthropogenic imprint on the environment. The precise chronology of these secondary carbonate deposits is a key issue for the accurate time reconstruction of environmental conditions. We present three 14C data sets for urban speleothem-like deposits that developed in contrasted man made environments. The first one was sampled in an underground technical gallery of the Palace of Versailles (France), and the other two in a manhole (Saint-Martin spring) of a historical underground aqueduct in Paris (France). The comparison of these records with the bomb peak and relative chronology (laminae counting) allowed us to identify: i) fast carbon transfer from the atmosphere to the urban underground; ii) a high proportion of dead carbon and a high damping effect in relation to possible old carbon stored within urban soils and/or the influence of local fossil carbon burning. This study also shows that the lamination of these deposits is bi-annual in these highly urbanized sites.
Band ogives are a striking and enigmatic feature of Mer de Glace glacier flow. The surface mass balances (SMBs) of these ogives have been thoroughly investigated over a period of 12 years. We find similar cumulative SMBs over this period, ranging between −64.1 and −66.2 m w.e., on the dark and light ogives even though the dark ogive albedo is ~40% lower than that of the light ogives. We, therefore, looked for another process that could compensate for the large difference of absorbed short-wave radiation between dark and light ogives. Based on in situ roughness measurements, our numerical modeling experiments demonstrate that a significant difference in turbulent flux over the dark and light ogives due to different surface roughnesses could compensate for the difference in radiative forcing. Our results discard theories for the genesis of band ogives that are based on the assumption of a strong ice ablation contrast between dark and light ogives. More generally, our study demonstrates that future roughness changes are as important to analyze as the radiative impacts of a potential increase of aerosols or debris at the surface of glaciers.
In practice cattle may be slaughtered at different combinations of age and weight. As each of these factors could affect meat quality traits, the present work aimed to identify which combination can be expected to increase overall meat quality of m. rectus abdominis of Charolais heifers. Totally, 40 heifers were slaughtered either at 26±1 or at 36±1 months of age. Young heifers were sampled at two different carcass weights (349±12 and 394±8 kg). Old heifers were also sampled at two different carcass weights (397±6 and 451±9 kg). The m. rectus abdominis was excised 24 h postmortem to determine metabolic enzyme activities, myosin heavy-chain isoform proportions, lipid contents, collagen content and collagen solubility. Shear force measurements were evaluated on raw and broiled meat after 14 days of ageing. Meat quality traits scored between 0 and 10 by sensory analysis. Increasing slaughter age from 26 to 36 months had no impact on either raw/broiled shear force (0.31⩽P⩽0.47) and/or meat quality traits (0.62⩽P⩽0.91) or on physicochemical properties of heifer’s meat samples. Increasing carcass weight for a similar slaughter age of 26 months had also impact neither on meat quality traits (0.52⩽P⩽0.91) nor on muscular properties. On the contrary, increasing carcass weight for a similar slaughter age of 36 months had induced a decrease of muscular shear force (raw muscle; P=0.009) and a concomitant decrease of total collagen content (P=0.03). Nevertheless, no significant impact on meat quality traits was revealed by the sensorial panel (0.13⩽P⩽0.49). Metabolic enzyme activities (0.13⩽P⩽0.86) and myosin heavy-chain proportions (0.13⩽P⩽0.96) were not significantly impacted by slaughter age and carcass weight. Thus, the impact of increasing carcass weight and/or slaughter age in young Charolais heifers has a limited impact on meat quality traits and associated muscular characteristics. Modulating heifer’s cycles (age and/or carcass weight in the studied range) appears to be a way to answer to the numerous marketing chains, without penalising meat quality traits.
Agroecology uses ecological processes and local resources rather than chemical inputs to develop productive and resilient livestock and crop production systems. In this context, breeding innovations are necessary to obtain animals that are both productive and adapted to a broad range of local contexts and diversity of systems. Breeding strategies to promote agroecological systems are similar for different animal species. However, current practices differ regarding the breeding of ruminants, pigs and poultry. Ruminant breeding is still an open system where farmers continue to choose their own breeds and strategies. Conversely, pig and poultry breeding is more or less the exclusive domain of international breeding companies which supply farmers with hybrid animals. Innovations in breeding strategies must therefore be adapted to the different species. In developed countries, reorienting current breeding programmes seems to be more effective than developing programmes dedicated to agroecological systems that will struggle to be really effective because of the small size of the populations currently concerned by such systems. Particular attention needs to be paid to determining the respective usefulness of cross-breeding v. straight breeding strategies of well-adapted local breeds. While cross-breeding may offer some immediate benefits in terms of improving certain traits that enable the animals to adapt well to local environmental conditions, it may be difficult to sustain these benefits in the longer term and could also induce an important loss of genetic diversity if the initial pure-bred populations are no longer produced. As well as supporting the value of within-breed diversity, we must preserve between-breed diversity in order to maintain numerous options for adaptation to a variety of production environments and contexts. This may involve specific public policies to maintain and characterize local breeds (in terms of both phenotypes and genotypes), which could be used more effectively if they benefited from the scientific and technical resources currently available for more common breeds. Last but not least, public policies need to enable improved information concerning the genetic resources and breeding tools available for the agroecological management of livestock production systems, and facilitate its assimilation by farmers and farm technicians.
Agroecology uses natural processes and local resources rather than chemical inputs to ensure production while limiting the environmental footprint of livestock and crop production systems. Selecting to achieve a maximization of target production criteria has long proved detrimental to fitness traits. However, since the 1990s, developments in animal breeding have also focussed on animal robustness by balancing production and functional traits within overall breeding goals. We discuss here how an agroecological perspective should further shift breeding goals towards functional traits rather than production traits. Breeding for robustness aims to promote individual adaptive capacities by considering diverse selection criteria which include reproduction, animal health and welfare, and adaptation to rough feed resources, a warm climate or fluctuating environmental conditions. It requires the consideration of genotype×environment interactions in the prediction of breeding values. Animal performance must be evaluated in low-input systems in order to select those animals that are adapted to limiting conditions, including feed and water availability, climate variations and diseases. Finally, we argue that there is no single agroecological animal type, but animals with a variety of profiles that can meet the expectations of agroecology. The standardization of both animals and breeding conditions indeed appears contradictory to the agroecological paradigm that calls for an adaptation of animals to local opportunities and constraints in weakly artificialized systems tied to their physical environment.
In July 2013, a Belgian couple were admitted to hospital because of pneumonia. Medical history revealed contact with birds. Eleven days earlier, they had purchased a lovebird in a pet shop in The Netherlands. The bird became ill, with respiratory symptoms. The couple's daughter who accompanied them to the pet shop, reported similar symptoms, but was travelling abroad. On the suspicion of psittacosis, pharyngeal swabs from the couple were taken and sent to the Belgian reference laboratory for psittacosis. Culture and nested polymerase chain reaction (PCR) tests were positive for the presence of Chlamydia psittaci, and ompA genotyping indicated genotype A in both patients. The patients were treated with doxycycline and the daughter started quinolone therapy; all three recovered promptly. Psittacosis is a notifiable disease in Belgium and therefore local healthcare authorities were informed. They contacted their Dutch colleagues, who visited the pet shop. Seven pooled faecal samples were taken and analysed using PCR by the Dutch national reference laboratory for notifiable animal diseases for the presence of Chlamydia psittaci. Four (57%) samples tested positive, genotyping revealed genotype A. Enquiring about exposure to pet birds is essential when patients present with pneumonia. Reporting to health authorities, even across borders, is warranted to prevent further spread.
Agroecology offers a scientific and operational framework for redesigning animal production systems (APS) so that they better cope with the coming challenges. Grounded in the stimulation and valorization of natural processes to reduce inputs and pollutions in agroecosystems, it opens a challenging research agenda for the animal science community. In this paper, we identify key research issues that define this agenda. We first stress the need to assess animal robustness by measurable traits, to analyze trade-offs between production and adaptation traits at within-breed and between-breed level, and to better understand how group selection, epigenetics and animal learning shape performance. Second, we propose research on the nutritive value of alternative feed resources, including the environmental impacts of producing these resources and their associated non-provisioning services. Third, we look at how the design of APS based on agroecological principles valorizes interactions between system components and promotes biological diversity at multiple scales to increase system resilience. Addressing such challenges requires a collection of theories and models (concept–knowledge theory, viability theory, companion modeling, etc.). Acknowledging the ecology of contexts and analyzing the rationales behind traditional small-scale systems will increase our understanding of mechanisms contributing to the success or failure of agroecological practices and systems. Fourth, the large-scale development of agroecological products will require analysis of resistance to change among farmers and other actors in the food chain. Certifications and market-based incentives could be an important lever for the expansion of agroecological alternatives in APS. Finally, we question the suitability of current agriculture extension services and public funding mechanisms for scaling-up agroecological practices and systems.
From a ferrite/martensite cold-rolled microstructure, the interaction between ferrite
recrystallization and austenite formation is investigated. It is observed that a slow
heating rate promotes the ferrite recrystallization and a homogeneous microstructure,
whereas a fast heating rate delays the recrystallization and leads to heterogeneously
distributed austenite islands.
Palliative sedation is a last resort medical act aimed at relieving intolerable suffering induced by intractable symptoms in patients at the end-of-life. This act is generally accepted as being medically indicated under certain circumstances. A controversy remains in the literature as to its ethical validity. There is a certain vagueness in the literature regarding the legitimacy of palliative sedation in cases of non-physical refractory symptoms, especially “existential suffering.” This pilot study aims to measure the influence of two independent variables (short/long prognosis and physical/existential suffering) on the physicians' attitudes toward palliative sedation (dependent variable).
We used a 2 × 2 experimental design as described by Blondeau et al. Four clinical vignettes were developed (vignette 1: short prognosis/existential suffering; vignette 2: long prognosis/existential suffering; vignette 3: short prognosis/physical suffering; vignette 4: long prognosis/physical suffering). Each vignette presented a terminally ill patient with a summary description of his physical and psychological condition, medication, and family situation. The respondents' attitude towards sedation was assessed with a six-point Likert scale. A total of 240 vignettes were sent to selected Swiss physicians.
74 vignettes were completed (36%). The means scores for attitudes were 2.62 ± 2.06 (v1), 1.88 ± 1.54 (v2), 4.54 ± 1.67 (v3), and 4.75 ± 1.71 (v4). General linear model analyses indicated that only the type of suffering had a significant impact on the attitude towards sedation (F = 33.92, df = 1, p = 0.000).
Significance of the results:
The French Swiss physicians' attitude toward palliative sedation is more favorable in case of physical suffering than in existential suffering. These results are in line with those found in the study of Blondeau et al. with Canadian physicians and will be discussed in light of the arguments given by physicians to explain their decisions.